Varaico: Literature-Extracted Genetic Variants

TOPORS

217 papers

RefSeq Summary

This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligas...

Pfam Domains

zf-C3HC4aa 103–141UCSCZinc finger, C3HC4 type (RING finger)

PWI_Toporsaa 284–361UCSCTopors, PWI-like domain

Gene Aliases

HGNC Name

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

HGNC Previous Symbol

RP31

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005802.5

p.G197_V199delFs

c.591_597del7

Surrounding Variants

1 paper

NM_005802.5

p.T204T

c.612A>T

1 paper

NM_005802.5

p.P207L

c.620C>T

1 paper

NM_005802.5

p.A190T

c.568G>A

1 paper

NM_005802.5

p.R188*

c.562C>T

1 paper

NM_005802.5

p.E214K

c.640G>A

1 paper

NM_005802.5

p.L184V

c.550C>G

1 paper

NM_005802.5

p.L216*

c.647T>G

1 paper

NM_005802.5

p.T183A

c.547A>G

1 paper

NM_005802.5

p.R181H

c.542G>A

1 paper

NM_005802.5

p.R181C

c.541C>T

1 paper

NM_005802.5

p.R179C

c.535C>T

1 paper

NM_005802.5

p.F178V

c.532T>G